MCID: PNM010
MIFTS: 41

Pneumothorax, Primary Spontaneous

Categories: Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pneumothorax, Primary Spontaneous

MalaCards integrated aliases for Pneumothorax, Primary Spontaneous:

Name: Pneumothorax, Primary Spontaneous 53 28 13 69
Spontaneous Pneumothorax 49 24 28 51 69
Primary Spontaneous Pneumothorax 49 24 71
Psp 53 24 71
Familial Spontaneous Pneumothorax 49 55
Pneumothorax 24 69

Characteristics:

Orphanet epidemiological data:

55
familial spontaneous pneumothorax
Inheritance: Autosomal dominant;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
majority of cases are sporadic, often in tall, thin men
allelic to birt-hogg-dube syndrome
bullae are located randomly in familial cases and apical in sporadic cases
incomplete penetrance


HPO:

31
pneumothorax, primary spontaneous:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 55  
Rare respiratory diseases


External Ids:

OMIM 53 173600
Orphanet 55 ORPHA2903
ICD10 via Orphanet 33 J93.1
MedGen 39 C1868193
SNOMED-CT via HPO 65 263681008 36118008 80423007

Summaries for Pneumothorax, Primary Spontaneous

NIH Rare Diseases : 49 Primary spontaneous pneumothorax is an abnormal accumulation of air in the pleural space (the space between the lungs and the chest cavity) that can result in the partial or complete collapse of a lung. It is called primary because it occurs in the absence of lung disease such as emphysema and spontaneous because the pneumothhorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely caused by the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. This air creates pressure on the lung and can lead to its collapse. Symptoms may include chest pain on the side of the collapsed lung and shortness of breath. The blebs that lead to primary spontaneous pneumothorax may be present in an individual's lung (or lungs) for a long time before they rupture. A change in air pressure or a very sudden deep breath may cause a rupture to occur. In most cases, there are no prior signs of illness. Once a bleb ruptures and causes a pneumothorax, rates for recurrence may be as high as 13 to 60 percent. Many researchers believe that genetic factors may play a role in the development of primary spontaneous pneumothorax. In rare cases, the condition can be caused by mutations in the FLCN gene. In these cases, the condition follows an autosomal dominant pattern of inheritance. In addition, several genetic disorders have been linked to primary spontaneous pneumothorax, including Marfan syndrome, homocystinuria, and Birt-Hogg-Dube syndrome. Last updated: 6/17/2015

MalaCards based summary : Pneumothorax, Primary Spontaneous, also known as spontaneous pneumothorax, is related to supranuclear palsy, progressive, 1 and parkinson-dementia syndrome, and has symptoms including abnormality of the pleura, pneumothorax and spontaneous pneumothorax. An important gene associated with Pneumothorax, Primary Spontaneous is FLCN (Folliculin). The drugs Benzocaine and Propofol have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and colon.

Genetics Home Reference : 24 Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emphysema. Spontaneous means the pneumothorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely due to the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. Air in the pleural space creates pressure on the lung and can lead to its collapse. A person with this condition may feel chest pain on the side of the collapsed lung and shortness of breath.

OMIM : 53 Birt-Hogg-Dube syndrome (BHD; 135150), which is characterized by spontaneous pneumothorax as well as by fibrofolliculomas of the skin and increased risk of renal and colonic tumors, is caused by mutation in the FLCN gene. Gunji et al. (2007) suggested that isolated primary spontaneous pneumothorax associated with FLCN mutations may be part of the clinical spectrum of BHD, showing incomplete disease penetrance. Spontaneous pneumothorax is a complication of certain heritable disorders of connective tissue, particularly the Marfan syndrome (154700) and the Ehlers-Danlos syndrome (see, e.g., 130000). Pulmonary bullae can also occur with alpha-1-antitrypsin deficiency (613490). (173600)

UniProtKB/Swiss-Prot : 71 Primary spontaneous pneumothorax: Condition in which air is present in the pleural space in the absence of a precipitating event, such as trauma or lung disease. This results in secondary collapse of the lung, either partially or completely, and some degree of hypoxia. PSP is relatively common, with an incidence between 7.4-18/100'000 for men and 1.2-6/100'000 for women and a dose- dependent, increased risk among smokers. Most cases are sporadic, typically occurring in tall, thin men aged 10-30 years and generally while at rest. Familial PSP is rarer and usually is inherited as an autosomal dominant condition with reduced penetrance, although X- linked recessive and autosomal recessive inheritance have also been suggested.

Related Diseases for Pneumothorax, Primary Spontaneous

Graphical network of the top 20 diseases related to Pneumothorax, Primary Spontaneous:



Diseases related to Pneumothorax, Primary Spontaneous

Symptoms & Phenotypes for Pneumothorax, Primary Spontaneous

Symptoms via clinical synopsis from OMIM:

53
Respiratory Lung:
subpleural blebs
bullae
pneumothorax


Clinical features from OMIM:

173600

Human phenotypes related to Pneumothorax, Primary Spontaneous:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the pleura 55 31 hallmark (90%) Very frequent (99-80%) HP:0002103
2 pneumothorax 55 31 hallmark (90%) Very frequent (99-80%) HP:0002107
3 spontaneous pneumothorax 31 HP:0002108
4 abnormality of the respiratory system 55 Very frequent (99-80%)

UMLS symptoms related to Pneumothorax, Primary Spontaneous:


hemoptysis, dyspnea

Drugs & Therapeutics for Pneumothorax, Primary Spontaneous

Drugs for Pneumothorax, Primary Spontaneous (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
2
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
3
Acetaminophen Approved Phase 4 103-90-2 1983
4
Morphine Approved, Investigational Phase 4 57-27-2 5288826
5
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
6
Remifentanil Approved Phase 4 132875-61-7 60815
7
Ropivacaine Approved Phase 4 84057-95-4 175805 71273
8 tannic acid Approved, Nutraceutical Phase 4
9 Analgesics Phase 4
10 Analgesics, Non-Narcotic Phase 4
11 Anesthetics Phase 4,Phase 2,Phase 3
12 Anesthetics, General Phase 4
13 Anesthetics, Intravenous Phase 4
14 Central Nervous System Depressants Phase 4
15 Hypnotics and Sedatives Phase 4
16 Peripheral Nervous System Agents Phase 4
17 Pharmaceutical Solutions Phase 4,Not Applicable
18 Analgesics, Opioid Phase 4
19 Antipyretics Phase 4
20 Narcotics Phase 4
21
Minocycline Approved, Investigational Phase 3,Phase 2 10118-90-8 5281021
22 Anti-Bacterial Agents Phase 3,Phase 2
23 Anti-Infective Agents Phase 3,Phase 2
24 insulin Phase 2
25 Insulin, Globin Zinc Phase 2
26
Dexmedetomidine Approved, Vet_approved 76631-46-4, 113775-47-6 5311068 56032 68602
27
Ketamine Approved, Vet_approved 6740-88-1 3821
28
Lidocaine Approved, Vet_approved 137-58-6 3676
29
Rocuronium Approved 119302-91-9, 143558-00-3 441290
30
Sevoflurane Approved, Vet_approved 28523-86-6 5206
31 Adrenergic Agents
32 Adrenergic Agonists
33 Adrenergic alpha-2 Receptor Agonists
34 Adrenergic alpha-Agonists
35 Anesthetics, Dissociative
36 Anesthetics, Inhalation
37 Anesthetics, Local
38 Anti-Arrhythmia Agents
39 Diuretics, Potassium Sparing
40 Excitatory Amino Acid Antagonists
41 Excitatory Amino Acids
42 Neuromuscular Agents
43 Neuromuscular Blocking Agents
44 Neuromuscular Nondepolarizing Agents
45 Neurotransmitter Agents
46 Platelet Aggregation Inhibitors
47 Sodium Channel Blockers

Interventional clinical trials:

(show all 31)

# Name Status NCT ID Phase Drugs
1 Improving Primary Spontaneous Pneumothorax (PSP) Treatment Techniques in VATS Unknown status NCT01463553 Phase 4
2 Controlled-Release Oxycodone For Postoperative Analgesia After Video-Assisted Thoracic Surgery Terminated NCT00681174 Phase 4 Morphine;oxycodone;Propofol;Remifentanil;Paracetamol;Morphine
3 Intrapleural Minocycline After Simple Aspiration for the Prevention of Primary Spontaneous Pneumothorax Unknown status NCT00418392 Phase 3
4 Additional Minocycline Pleurodesis After Thoracoscopic Procedures for Primary Spontaneous Pneumothorax Unknown status NCT00154895 Phase 3 intrapleural minocycline instillation
5 Pleural Abrasion Plus Minocycline Versus Apical Pleurectomy for Primary Spontaneous Pneumothorax Unknown status NCT00270751 Phase 2, Phase 3
6 Chest Tube Drainage or Thoracoscopic Surgery for Failed Aspiration of Spontaneous Pneumothorax Unknown status NCT00713362 Phase 2, Phase 3
7 Efficacy of the Additional Mechanical Pleurodesis for Surgical Management of Primary Spontaneous Pneumothorax Completed NCT00615849 Phase 3
8 Effect of Dissecting of The Inferior Pulmonary Ligament on Postoperative Pulmonary Reexpansion and Recurrence Recruiting NCT02558608 Phase 3
9 Absorbable Mesh Pleurodesis in Thoracoscopic Treatment of Spontaneous Pneumothorax Recruiting NCT01848860 Phase 2, Phase 3
10 Techniques for Lung Deflation With Arndt® Blocker Completed NCT02030795 Phase 2
11 Prevalence of Spontaneous Pneumothorax in BHD Recruiting NCT02916992 Phase 1
12 Pathogenesis of Primary Spontaneous Pneumothorax Unknown status NCT01135004
13 Comparison of Exsufflation Versus Drainage in Primary Spontaneous Pneumothorax Unknown status NCT01008228
14 Intrapleural Minocycline After Aspiration of Spontaneous Pneumothorax Unknown status NCT00839553
15 A Comparative Study of the Safety and Efficacy of Face Talc Slurry and Iodopovidone for Pleurodesis Unknown status NCT00430664
16 A Prospective Randomised Study of Efficacy, Safety and Costs of Talc Pleurodesis Under Medical Thoracoscopy and Pleurodesis Under Video-assisted Thoracoscopy Surgery for Recurrent Primary Spontaneous Pneumothorax Completed NCT00767962
17 Intrapleural Minocycline Following Simple Aspiration for Primary Spontaneous Pneumothorax Completed NCT00520221
18 Comparative Study of Nonintubated Anesthesia Versus Intubated General Anesthesia in Single Port Thoracoscopic Bullectomy Completed NCT02109510 nonintubated sedation anesthesia with dexmedetomidine IV, ketamine IV and intercostal nerve block with lidocaine infiltration;intubated general anesthesia with propofol IV, rocuronium IV ,sevoflurane and N2O gas
19 Video-assisted Thoracic Surgery (VATS) Versus Axillary Mini-thoracotomy for the Treatment of Recurrent Spontaneous Pneumothorax Completed NCT01192217 Not Applicable
20 Post-lobectomy Use of Glucose for Pleurodesis and Air-leak Cessation. A Feasibility Trial. Completed NCT02376218 Not Applicable Hypertonic 50% dextrose pleurodesis
21 Immune Response in Lung Cancer Completed NCT01955343
22 Spontaneous Pneumothorax in Children Recruiting NCT02573285
23 Study Designed to Optimize the Treatment of Primary Pneumothorax Recruiting NCT02866305 Early Phase 1 Epidural
24 Comparing Efficacy of Chest Tube Drainage and Needle Aspiration in Pneumothorax Treatment Recruiting NCT03293199
25 Primary Versus Delayed Surgical Therapy for Pediatric Spontaneous Pneumothorax Recruiting NCT02449980
26 Wedge Resection or Parietal Pleurectomy for the Treatment of Recurrent Pneumothorax (WOPP) Recruiting NCT01855464
27 Assessment of Safety of Air Travel in Patients With Pulmonary Langerhans Cell Histiocytosis Recruiting NCT03052101
28 Assessment of Safety of Air Travel in Patients With Birt-Hogg-Dube Syndrome Recruiting NCT03040115
29 Genetic Analysis of Birt Hogg-Dube Syndrome and Characterization of Predisposition to Kidney Cancer Recruiting NCT00033137
30 PCL (Poly-ε-caprolactone) Mesh Pleurodesis Not yet recruiting NCT03227978 Early Phase 1
31 Chronic Pain After Video-assisted Thoracoscopic Surgery (VATS) Surgery for Pneumothorax Terminated NCT00969423

Search NIH Clinical Center for Pneumothorax, Primary Spontaneous

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for Pneumothorax, Primary Spontaneous

Genetic tests related to Pneumothorax, Primary Spontaneous:

# Genetic test Affiliating Genes
1 Pneumothorax, Primary Spontaneous 28 FLCN
2 Spontaneous Pneumothorax 28

Anatomical Context for Pneumothorax, Primary Spontaneous

MalaCards organs/tissues related to Pneumothorax, Primary Spontaneous:

38
Lung, Skin, Colon

Publications for Pneumothorax, Primary Spontaneous

Articles related to Pneumothorax, Primary Spontaneous:

(show top 50) (show all 716)
# Title Authors Year
1
Thoracoscopic Blebectomy and Pleurodesis for Primary Spontaneous Pneumothorax. ( 29450816 )
2018
2
Birt-Hogg-DubAc syndrome: spontaneous pneumothorax as a first symptom. ( 29321196 )
2018
3
Recurrent Spontaneous Pneumothorax as a Manifestation of Birt-Hogg-Dube Syndrome. ( 29397232 )
2018
4
Will the presence of radiological signs of tension pneumothorax affect the clinical presentation of primary spontaneous pneumothorax? ( 29411175 )
2018
5
Birt-Hogg-DubAc Syndrome Manifesting as Spontaneous Pneumothorax: A Novel Mutation of the Folliculin Gene. ( 29124032 )
2017
6
Simple aspiration versus intercostal tube drainage for primary spontaneous pneumothorax in adults. ( 28881006 )
2017
7
Birt-Hogg-DubAc syndrome: a rare cause of familial spontaneous pneumothorax. ( 28775225 )
2017
8
The outcome and risk factors for recurrence and extended hospitalization of secondary spontaneous pneumothorax. ( 28905224 )
2017
9
Initial primary spontaneous pneumothorax in children and adolescents: Operate or wait? ( 29361279 )
2017
10
First Spontaneous Pneumothorax: Time for Screening High-Resolution Computed Tomographic Imaging to Look for Cystic Lung Disease? ( 28035875 )
2017
11
Association of MMP-2 and MMP-9 expression with recurrences in primary spontaneous pneumothorax. ( 28088269 )
2017
12
Trends in the Management of Spontaneous Pneumothorax: A Single Center Experience. ( 29373780 )
2017
13
Clinical and genetic study of a large Chinese family presented with familial spontaneous pneumothorax. ( 28839995 )
2017
14
Spontaneous pneumothorax in paracoccidioidomycosis patients from an endemic area in Midwestern Brazil. ( 27687259 )
2017
15
Relationship between onset of spontaneous pneumothorax and weather conditions. ( 28874036 )
2017
16
An Unusual Case of Needle Embolus Presenting With Delayed Spontaneous Pneumothorax. ( 27549542 )
2016
17
Primary Spontaneous Pneumothorax in Menstruating Women Has High Recurrence. ( 27345097 )
2016
18
eComment. Should the patients' choice guide surgeons for the surgical strategy of primary spontaneous pneumothorax? ( 27431817 )
2016
19
Reexpansion pulmonary edema after surgery for spontaneous pneumothorax in a patient with anorexia nervosa. ( 27158490 )
2016
20
Spontaneous Pneumothorax Complicating Miliary Tuberculosis. ( 27876217 )
2016
21
Learning curve of single-incision thoracoscopic surgery for primary spontaneous pneumothorax. ( 27515837 )
2016
22
Study protocol for a randomised controlled trial of invasive versus conservative management of primary spontaneous pneumothorax. ( 27625060 )
2016
23
A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-DubAc syndrome in patients with primary spontaneous pneumothorax. ( 27229674 )
2016
24
Epithelioid sarcoma with spontaneous pneumothorax and massive pleural effusion. ( 26767876 )
2016
25
Primary spontaneous pneumothorax: simultaneous treatment by bilateral non-intubated videothoracoscopy. ( 27165732 )
2016
26
Association Between BMI and Recurrence of Primary Spontaneous Pneumothorax. ( 27909771 )
2016
27
Left lung agenesis discovered by a spontaneous pneumothorax in a 20-year-old girl. ( 27051112 )
2016
28
Spontaneous pneumothorax due to bronchopleural fistula following reirradiation for locoregionally recurrent squamous cell lung cancer. ( 27190612 )
2016
29
Anesthetic management of nephrectomy in a chronic obstructive pulmonary disease patient with recurrent spontaneous pneumothorax. ( 27343795 )
2016
30
Another innovation in surgery for primary spontaneous pneumothorax (for men only). ( 27542625 )
2016
31
Recurrent spontaneous pneumothorax in young woman: catamenial pneumothorax. ( 27217870 )
2016
32
Occult primary pulmonary synovial sarcoma presenting as recurrent spontaneous pneumothorax and explosive progression. ( 27995774 )
2016
33
Identifying Primary Spontaneous Pneumothorax from Administrative Databases: A Validation Study. ( 27445518 )
2016
34
Chemotherapy-induced Spontaneous Pneumothorax: Case Series. ( 27550883 )
2016
35
Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt-Hogg-DubAc syndrome. ( 27652079 )
2016
36
Vats Versus Axillary Minithoracotomy in the Management of the Second Episode of Spontaneous Pneumothorax: Cost-Benefit Analysis. ( 27189074 )
2016
37
Primary spontaneous pneumothorax: a cohort study of VATS with talc poudrage. ( 27422793 )
2016
38
Multicentric Genome-Wide Association Study for Primary Spontaneous Pneumothorax. ( 27203581 )
2016
39
Outcome and risk factors of recurrence after thoracoscopic bullectomy in young adults with primary spontaneous pneumothorax. ( 27909813 )
2016
40
Primary spontaneous pneumothorax due to high bleb burden. ( 27642566 )
2016
41
The efficacy and economical benefits of blood patch pleurodesis in secondary spontaneous pneumothorax patients. ( 27212974 )
2016
42
Subxiphoid vs intercostal single-incision video-assisted thoracoscopic surgery for spontaneous pneumothorax: A randomised controlled trial. ( 27134127 )
2016
43
Management of primary spontaneous pneumothorax by intensivists: an international survey. ( 27387184 )
2016
44
Etiology of primary spontaneous pneumothorax. ( 27383937 )
2016
45
Novel folliculin (FLCN) mutation and familial spontaneous pneumothorax. ( 27486260 )
2016
46
Modified Chest Wall Pulley for Lung Excision during Single-Incision Thoracoscopic Surgery for Primary Spontaneous Pneumothorax. ( 27601265 )
2016
47
Ultrasonic Technology for Management of Primary Spontaneous Pneumothorax. ( 27618441 )
2016
48
Evaluation of Spontaneous Pneumothorax Surgeries: A 16-Year Experience in Japan. ( 27191013 )
2016
49
Transareolar pulmonary bullectomy for primary spontaneous pneumothorax. ( 27496616 )
2016
50
First Real-Time Visualization of a Spontaneous Pneumothorax Developing in a Preterm Lamb Using Electrical Impedance Tomography. ( 27367888 )
2016

Variations for Pneumothorax, Primary Spontaneous

UniProtKB/Swiss-Prot genetic disease variations for Pneumothorax, Primary Spontaneous:

71
# Symbol AA change Variation ID SNP ID
1 FLCN p.Glu132Lys VAR_066024
2 FLCN p.His429Tyr VAR_066028 rs375082054

ClinVar genetic disease variations for Pneumothorax, Primary Spontaneous:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FLCN NM_144606.5(FLCN): c.779G> A (p.Trp260Ter) single nucleotide variant Pathogenic rs368778627 GRCh37 Chromosome 17, 17125815: 17125815
2 FLCN NM_144997.5(FLCN): c.469_471delTTC (p.Phe157del) deletion Pathogenic/Likely pathogenic rs786203218 GRCh37 Chromosome 17, 17127383: 17127385
3 FLCN NM_144997.6(FLCN): c.1285dup (p.His429Profs) duplication Pathogenic rs80338682 GRCh37 Chromosome 17, 17119709: 17119709
4 FLCN NM_144997.5(FLCN): c.235_238delTCGG (p.Ser79Thrfs) deletion Pathogenic rs750146811 GRCh37 Chromosome 17, 17131214: 17131217
5 FLCN NM_144997.5(FLCN): c.1533_1536delGATG (p.Trp511Terfs) deletion Pathogenic rs886037608 GRCh37 Chromosome 17, 17118301: 17118304
6 FLCN NM_144997.5(FLCN): c.404delC (p.Pro135Leufs) deletion Pathogenic rs886037609 GRCh37 Chromosome 17, 17127450: 17127450
7 FLCN NM_144997.5(FLCN): c.1156_1175del20 (p.Ser386Aspfs) deletion Pathogenic rs886037610 GRCh37 Chromosome 17, 17120384: 17120403
8 FLCN NM_144997.5(FLCN): c.872-?_c.1740+?del deletion Pathogenic

Expression for Pneumothorax, Primary Spontaneous

Search GEO for disease gene expression data for Pneumothorax, Primary Spontaneous.

Pathways for Pneumothorax, Primary Spontaneous

GO Terms for Pneumothorax, Primary Spontaneous

Sources for Pneumothorax, Primary Spontaneous

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